Rare Diseases Symptoms Automatic Extraction
Home
A random Abstract
Our Project
Our Team
GC-EI-MS Analysis of Fatty Acid Composition in Brain and Serum of Twitcher Mouse.
[krabbe disease]
Globoid
cell
leukodystrophy
or
Krabbe
disease
is
an
inherited
autosomal
recessive
disorder
caused
by
mutations
in
the
galactosylceramidase
gene
.
The
objective
of
the
study
was
to
present
information
about
the
fatty
acid
(
FA
)
composition
of
the
brain
and
serum
of
twitcher
mice
,
a
mouse
model
of
Krabbe
disease
,
compared
to
wild
type
,
in
order
to
identify
biomarker
of
disease
progression
.
We
defined
the
FA
profiles
by
identifying
the
main
components
present
in
serum
and
brain
using
GC
-
EI
-
MS
analysis
.
The
FA
percentage
composition
was
measured
and
data
were
analyzed
considering
the
disease
and
the
mouse
age
as
experimental
factors
.
Significant
correlations
were
established
,
both
in
brain
and
in
serum
,
in
the
fatty
acid
percentage
composition
of
twitcher
compared
to
wild
type
mice
.
The
most
abundant
saturated
fatty
acid
in
brain
was
the
palmitic
acid
(
C
16
:
0
)
with
mean
values
significantly
increased
in
twitcher
mouse
(
p
Â
=
Â
0
.
0142
)
;
moreover
,
three
monounsaturated
,
three
polyunsaturated
(
PUFA
)
and
a
plasmalogen
were
significantly
correlated
to
disease
.
In
the
serum
highly
significant
differences
were
observed
between
the
two
groups
for
three
polyunsaturated
fatty
acids
.
In
fact
,
the
docosahexaenoic
acid
(
C
2
2
:
6
n
3
c
)
content
was
significantly
increased
(
p
Â
=
Â
0
.
0116
)
,
while
the
C
2
0
PUFA
(
C
2
0
:
3
n
6
c
and
C
2
0
:
5
n
3
c
)
were
significantly
decreased
in
twitcher
serum
samples
.
Our
study
shows
a
specific
FA
profile
that
may
help
to
define
a
possible
pattern
that
could
distinguish
between
twitcher
and
wild
type
;
these
data
are
likely
to
provide
insight
in
the
identification
of
new
biomarkers
to
monitor
the
disease
progression
and
thereby
permit
the
critical
analysis
of
therapeutic
approaches
.
